Linked Data
dbSNP Id:
rs373682259
ExAC:
2:73799864 G / C
gnomAD v2:
2-73799864-G-C
gnomAD v4:
2-73572737-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572737G>C , CM000664.2:g.73572737G>C | GRCh38 |
| NC_000002.11:g.73799864G>C , CM000664.1:g.73799864G>C | GRCh37 |
| NC_000002.10:g.73653372G>C | NCBI36 |
| NG_011690.1:g.191985G>C , LRG_741:g.191985G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10479G>C | ENSP00000507671.1:p.Arg3493Ser | |
| ENST00000682801.1:c.10479G>C | ENSP00000507862.1:p.Arg3493Ser | |
| ENST00000682859.1:c.10479G>C | ENSP00000508222.1:p.Arg3493Ser | |
| ENST00000683791.1:c.3565G>C | ||
| ENST00000684460.1:c.7760G>C | ||
| ENST00000684548.1:c.10479G>C | ENSP00000507421.1:p.Arg3493Ser | |
| ENST00000684590.1:c.4926G>C | ENSP00000507376.1:p.Arg1642Ser | |
| ENST00000684656.1:c.7805G>C | ||
| ENST00000613296.6:c.10860G>C MANE Select | ENSP00000482968.1:p.Arg3620Ser | |
| ENST00000651057.1:c.1014G>C | ENSP00000498504.1:p.Arg338Ser | |
| ENST00000651434.1:c.2216G>C | ||
| ENST00000651750.1:c.248G>C | ||
| ENST00000652487.1:c.1957G>C | ||
| ENST00000423048.5:c.4351G>C | ENSP00000399833.1:n.4351G>C | |
| ENST00000484298.5:c.10734G>C | ENSP00000478155.1:p.Arg3578Ser | |
| ENST00000613296.4:c.10860G>C | ENSP00000482968.1:p.Arg3620Ser | |
| ENST00000614410.4:c.10860G>C | ENSP00000479094.1:p.Arg3620Ser | |
| ENST00000620466.4:n.4663G>C | ||
| NM_015120.4:c.10863G>C , LRG_741t1:c.10863G>C | NP_055935.4:p.Arg3621Ser | |
| NM_001378454.1:c.10860G>C MANE Select | NP_001365383.1:p.Arg3620Ser |